Phenylalanine and Mental Retardation (PKU)
Phenylketonuria (PKU) is the most important and most frequent disorder of aromatic amino acid metabolism. It results from a defect in phenylalanine hydroxylase, the enzyme that normally converts phenylalanine to tyrosine. The disorder was discovered some 50 years ago by Föiling who observed a deep green color on the addition of ferric chloride to the urine of two mentally retarded siblings and characterized the compound responsible as phenylpyruvic acid, the phenylketone for which the disorder has been named.
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